Canonical Allele Identifier: CA256250503
Gene: COL4A1 HGNC NCBI

Linked Data

dbSNP Id: rs754922869
gnomAD v2: 13-110821576-G-A
gnomAD v3: 13-110169229-G-A
gnomAD v4: 13-110169229-G-A
MyVariant Identifiers: chr13:g.110821576G>A (hg19) chr13:g.110169229G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169229G>A , CM000675.2:g.110169229G>A GRCh38
NC_000013.10:g.110821576G>A , CM000675.1:g.110821576G>A GRCh37
NC_000013.9:g.109619577G>A NCBI36
NG_011544.2:g.142921C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+400C>T MANE Select ENSP00000364979.4:n.3876+400C>T
ENST00000650424.1:c.32+400C>T
ENST00000375820.8:c.3876+400C>T ENSP00000364979.4:n.3876+400C>T
NM_001845.5:c.3876+400C>T NP_001836.3:n.3876+400C>T
XM_011521048.1:c.3684+400C>T XP_011519350.1:n.3684+400C>T
XM_011521048.2:c.3684+400C>T XP_011519350.1:n.3684+400C>T
NM_001845.6:c.3876+400C>T MANE Select NP_001836.3:n.3876+400C>T
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